Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246150 | SCV000302992 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000948405 | SCV000518497 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28323911, 15170499, 15277425, 19515026, 10720084, 24097065, 10545531, 10545530, 26669242) |
Personalized Diabetes Medicine Program, |
RCV000445407 | SCV000537091 | benign | Monogenic diabetes | 2018-10-12 | criteria provided, single submitter | research | ACMG criteria: BS2 (cases=controls in PMID 17592437, 21569088), BS1 (0.4% MAF in gnomAD)= benign; REVEL 0.245 +BP4/4 predictors + PP3/6 predictors: conflicting evidence, not using) OMIM suggests that it is a susceptability factor for T2DM |
Genomic Research Center, |
RCV000009409 | SCV000746931 | benign | Type 2 diabetes mellitus | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000626294 | SCV000746953 | benign | Maturity onset diabetes mellitus in young | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000948405 | SCV001094610 | benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000948405 | SCV001144244 | benign | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV000030077 | SCV001423109 | benign | Maturity-onset diabetes of the young type 4 | 2020-01-22 | criteria provided, single submitter | curation | The p.Asp76Asn variant in PDX1 (sometimes called IPF1) has been reported in at least 32 individuals with Maturity-Onset Diabetes of the Young (PMID: 15277425, 10545531, 10545530, 17592437), and has been identified in 0.4909% (336/68440) of European (non-Finnish) chromosomes, including 2 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs137852783). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. However, this variant does not segregate with disease in many families, including sibling pairs (PMID: 10545531, 15277425). This variant has also been reported as a benign variant, likely benign variant, VUS, likely pathogenic variant, and risk factor for diabetes in ClinVar (Variation ID: 8859). In vitro functional studies provide some evidence that the p.Asp76Asn variant may slightly impact protein function, but this evidence is not conclusive (PMID: 10545531). These types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, this variant meets criteria to be classified as benign for Maturity-Onset Diabetes of the Young in an autosomal dominant manner based on a higher than expected frequency in control cohorts and nonsegregation with MODY. ACMG/AMP Criteria applied: BS2, BS4, BP4 (Richards 2015). |
Genetic Services Laboratory, |
RCV000246150 | SCV002068921 | likely benign | not specified | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000626294 | SCV002733265 | likely benign | Maturity onset diabetes mellitus in young | 2022-06-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV000948405 | SCV003799703 | likely benign | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001799501 | SCV000029627 | uncertain significance | Diabetes mellitus type 2, susceptibility to | 1999-11-01 | no assertion criteria provided | literature only | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030077 | SCV000052732 | not provided | Maturity-onset diabetes of the young type 4 | 2011-08-18 | no assertion provided | clinical testing |